Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program
The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include SCID in the Dutch newborn screening program i...
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doaj-dc60923938e449daaa21234bbf8599452020-11-24T20:44:36ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2018-12-01444010.3390/ijns4040040ijns4040040Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening ProgramMaartje Blom0Robbert G.M. Bredius1Gert Weijman2Eugènie H.B.M. Dekkers3Evelien A. Kemper4M. Elske van den Akker-van Marle5Catharina P.B. van der Ploeg6Mirjam van der Burg7Peter C.J.I. Schielen8Department of Pediatrics, Laboratory for Immunology, Leiden University Medical Center (LUMC), P.O. Box 9600, 2300 RC Leiden, The NetherlandsDepartment of Pediatrics, Leiden University Medical Center (LUMC), P.O. Box 9600, 2300 RC Leiden, The NetherlandsDepartment of Vaccine Supply and Prevention Programmes, National Institute for Public Health and the Environment (RIVM), P.O. Box 1, 3720 BA Bilthoven, The NetherlandsCentre for Population Screening, National Institute of Public Health and the Environment (RIVM), P.O. Box 1, 3720 BA Bilthoven, The NetherlandsDepartment of Clinical Chemistry, IJsselland Hospital, P.O. Box 690, 2900 AR Capelle aan den IJssel, The NetherlandsDepartment of Biomedical Data Sciences, section Medical Decision Making, Leiden University Medical Center (LUMC), P.O. Box 9600, 2300 RC Leiden, The NetherlandsDepartment of Child Health, TNO, P.O. Box 3005, 2301 DA Leiden, The NetherlandsDepartment of Pediatrics, Laboratory for Immunology, Leiden University Medical Center (LUMC), P.O. Box 9600, 2300 RC Leiden, The NetherlandsDepartment of Biologicals, Screening and Innovation, Centre for Health Protection, National Institute of Public Health and the Environment (RIVM), P.O. Box 1, 3720 BA Bilthoven, The NetherlandsThe implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include SCID in the Dutch newborn screening program in 2015. As newborn screening for SCID is executed with a new, relatively expensive assay for the Dutch screening laboratory, an implementation pilot study is deemed instrumental for successful implementation. A feasibility study was performed in which the practicalities and preconditions of expanding the newborn screening program were defined. Cost-effectiveness analysis (CEA) indicated that SCID screening in the Netherlands might be cost-effective, recognizing that there are still many uncertainties in the variables underlying the CEA. Data and experience of the pilot study should provide better estimates of these parameters, thus enabling the actualization of CEA results. Prior to the implementation pilot study, a comparison study of two commercially available SCID screening assays was performed. A prospective implementation pilot study or so-called SONNET study (SCID screening research in the Netherlands with TRECs) started in April 2018 and allows the screening for SCID of all newborns in three provinces of the Netherlands for one year. Based on the results of the SONNET study, the Dutch Ministry of Health will make a final decision about national implementation of newborn screening for SCID in the Netherlands.https://www.mdpi.com/2409-515X/4/4/40severe combined immunodeficiencySCIDnewborn screeningT-cell receptor excision circlesTRECSONNET study |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Maartje Blom Robbert G.M. Bredius Gert Weijman Eugènie H.B.M. Dekkers Evelien A. Kemper M. Elske van den Akker-van Marle Catharina P.B. van der Ploeg Mirjam van der Burg Peter C.J.I. Schielen |
spellingShingle |
Maartje Blom Robbert G.M. Bredius Gert Weijman Eugènie H.B.M. Dekkers Evelien A. Kemper M. Elske van den Akker-van Marle Catharina P.B. van der Ploeg Mirjam van der Burg Peter C.J.I. Schielen Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program International Journal of Neonatal Screening severe combined immunodeficiency SCID newborn screening T-cell receptor excision circles TREC SONNET study |
author_facet |
Maartje Blom Robbert G.M. Bredius Gert Weijman Eugènie H.B.M. Dekkers Evelien A. Kemper M. Elske van den Akker-van Marle Catharina P.B. van der Ploeg Mirjam van der Burg Peter C.J.I. Schielen |
author_sort |
Maartje Blom |
title |
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program |
title_short |
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program |
title_full |
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program |
title_fullStr |
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program |
title_full_unstemmed |
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program |
title_sort |
introducing newborn screening for severe combined immunodeficiency (scid) in the dutch neonatal screening program |
publisher |
MDPI AG |
series |
International Journal of Neonatal Screening |
issn |
2409-515X |
publishDate |
2018-12-01 |
description |
The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include SCID in the Dutch newborn screening program in 2015. As newborn screening for SCID is executed with a new, relatively expensive assay for the Dutch screening laboratory, an implementation pilot study is deemed instrumental for successful implementation. A feasibility study was performed in which the practicalities and preconditions of expanding the newborn screening program were defined. Cost-effectiveness analysis (CEA) indicated that SCID screening in the Netherlands might be cost-effective, recognizing that there are still many uncertainties in the variables underlying the CEA. Data and experience of the pilot study should provide better estimates of these parameters, thus enabling the actualization of CEA results. Prior to the implementation pilot study, a comparison study of two commercially available SCID screening assays was performed. A prospective implementation pilot study or so-called SONNET study (SCID screening research in the Netherlands with TRECs) started in April 2018 and allows the screening for SCID of all newborns in three provinces of the Netherlands for one year. Based on the results of the SONNET study, the Dutch Ministry of Health will make a final decision about national implementation of newborn screening for SCID in the Netherlands. |
topic |
severe combined immunodeficiency SCID newborn screening T-cell receptor excision circles TREC SONNET study |
url |
https://www.mdpi.com/2409-515X/4/4/40 |
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